DisGeNET - a database of gene-disease associations

Reifenstein Syndrome, C0268301

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs137852591

0.810

GeneticVariation

UNIPROT

A novel missense mutation in the amino-terminal domain of the human androgen receptor gene in a family with partial androgen insensitivity syndrome causes reduced efficiency of protein translation.

8823308

1996

dbSNP:

rs137852600

0.810

GeneticVariation

UNIPROT

Functional analysis of six androgen receptor mutations identified in patients with partial androgen insensitivity syndrome.

8824883

1996

dbSNP:

rs137852600

0.810

GeneticVariation

UNIPROT

Clinical and biochemical investigations and molecular analysis of subjects with mutations in the androgen receptor gene.

9039340

1996

dbSNP:

rs137852600

0.810

GeneticVariation

UNIPROT

A novel missense mutation in the amino-terminal domain of the human androgen receptor gene in a family with partial androgen insensitivity syndrome causes reduced efficiency of protein translation.

8823308

1996

dbSNP:

rs137852573

0.810

GeneticVariation

UNIPROT

A single amino acid exchange abolishes dimerization of the androgen receptor and causes Reifenstein syndrome.

7649358

1995

dbSNP:

rs137852591

0.810

GeneticVariation

UNIPROT

A single amino acid exchange abolishes dimerization of the androgen receptor and causes Reifenstein syndrome.

7649358

1995

dbSNP:

rs137852600

0.810

GeneticVariation

UNIPROT

A single amino acid exchange abolishes dimerization of the androgen receptor and causes Reifenstein syndrome.

7649358

1995

dbSNP:

rs137852573

0.810

GeneticVariation

UNIPROT

Characterization of mutant androgen receptors causing partial androgen insensitivity syndrome.

8126121

1994

dbSNP:

rs137852573

0.810

GeneticVariation

UNIPROT

A practical approach to the detection of androgen receptor gene mutations and pedigree analysis in families with x-linked androgen insensitivity.

7970939

1994

dbSNP:

rs137852573

0.810

GeneticVariation

UNIPROT

Amino acid substitutions in the hormone-binding domain of the human androgen receptor alter the stability of the hormone receptor complex.

7929841

1994

dbSNP:

rs137852573

0.810

GeneticVariation

UNIPROT

Molecular characterization of the androgen receptor gene in boys with hypospadias.

8033918

1994

dbSNP:

rs137852591

0.810

GeneticVariation

UNIPROT

Characterization of mutant androgen receptors causing partial androgen insensitivity syndrome.

8126121

1994

dbSNP:

rs137852591

0.810

GeneticVariation

UNIPROT

A practical approach to the detection of androgen receptor gene mutations and pedigree analysis in families with x-linked androgen insensitivity.

7970939

1994

dbSNP:

rs137852591

0.810

GeneticVariation

UNIPROT

Molecular characterization of the androgen receptor gene in boys with hypospadias.

8033918

1994

dbSNP:

rs137852591

0.810

GeneticVariation

UNIPROT

Amino acid substitutions in the hormone-binding domain of the human androgen receptor alter the stability of the hormone receptor complex.

7929841

1994

dbSNP:

rs137852600

0.810

GeneticVariation

UNIPROT

A practical approach to the detection of androgen receptor gene mutations and pedigree analysis in families with x-linked androgen insensitivity.

7970939

1994

dbSNP:

rs137852600

0.810

GeneticVariation

UNIPROT

Characterization of mutant androgen receptors causing partial androgen insensitivity syndrome.

8126121

1994

dbSNP:

rs137852600

0.810

GeneticVariation

UNIPROT

Amino acid substitutions in the hormone-binding domain of the human androgen receptor alter the stability of the hormone receptor complex.

7929841

1994

dbSNP:

rs137852600

0.810

GeneticVariation

UNIPROT

Molecular characterization of the androgen receptor gene in boys with hypospadias.

8033918

1994

dbSNP:

rs137852573

0.810

GeneticVariation

UNIPROT

A single amino acid substitution (gly743 --> val) in the steroid-binding domain of the human androgen receptor leads to Reifenstein syndrome.

8325932

1993

dbSNP:

rs137852573

0.810

GeneticVariation

UNIPROT

Single strand conformation polymorphism analysis of androgen receptor gene mutations in patients with androgen insensitivity syndromes: application for diagnosis, genetic counseling, and therapy.

8325950

1993

dbSNP:

rs137852573

0.810

GeneticVariation

UNIPROT

Mutations of the androgen receptor gene identified in perineal hypospadias.

8097257

1993

dbSNP:

rs137852591

0.810

GeneticVariation

UNIPROT

Mutations of the androgen receptor gene identified in perineal hypospadias.

8097257

1993

dbSNP:

rs137852591

0.810

GeneticVariation

UNIPROT

Single strand conformation polymorphism analysis of androgen receptor gene mutations in patients with androgen insensitivity syndromes: application for diagnosis, genetic counseling, and therapy.

8325950

1993

dbSNP:

rs137852591

0.810

GeneticVariation

UNIPROT

A single amino acid substitution (gly743 --> val) in the steroid-binding domain of the human androgen receptor leads to Reifenstein syndrome.

8325932

1993